Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Journal of Inherited Metabolic Disease

Volumn 39, Issue 2, 2016, Pages 305-308

  Jacobsen, Jessie C ^a   Wilson, Callum ^b   Cunningham, Vicki ^c   Glamuzina, Emma ^b   Prosser, Debra O ^d   Love, Donald R ^d   Burgess, Trent ^e   Taylor, Juliet ^b   Swan, Brendan ^a   Hill, Rosamund ^b   Robertson, Stephen P ^f   Snell, Russell G ^a   Lehnert, Klaus ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

^c Northland District Health Board   (New Zealand)

^d AUCKLAND CITY HOSPITAL   (New Zealand)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; CARBIDOPA PLUS LEVODOPA; DOPAMINE; HOMOVANILLIC ACID; LEVODOPA; NEUROTRANSMITTER; PRAMIPEXOLE; SEROTONIN; VESICULAR MONOAMINE TRANSPORTER 2; CARBIDOPA;

ALERTNESS; APGAR SCORE; ARTICLE; AUTONOMIC DYSFUNCTION; BRAIN DISEASE; BRAIN DOPAMINE SEROTONIN VESICULAR TRANSPORT DISEASE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL EXAMINATION; EXTRAPYRAMIDAL SYMPTOM; EYE MOVEMENT; FOCAL EPILEPSY; GENE MUTATION; HAPLOTYPE MAP; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTERPERSONAL COMMUNICATION; LANGUAGE DEVELOPMENT; MALE; OCULOGYRIC CRISIS; PARKINSONISM; SOCIAL EVOLUTION; SOCIAL INTERACTION; TENDON REFLEX; VOCALIZATION; BRAIN; BRAIN DISEASES; CHILD; DRUG EFFECTS; GENETICS; METABOLISM; PARKINSONIAN DISORDERS; SINGLE NUCLEOTIDE POLYMORPHISM;

BRAIN; BRAIN DISEASES; CARBIDOPA; CHILD; DOPAMINE; HUMANS; LEVODOPA; MALE; PARKINSONIAN DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEROTONIN;

EID: 84958149751     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9897-6     Document Type: Article

References (16)

1. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U (2011) Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab 104(Supplement):S2–S9
2. Christiansen L, Tan Q, Iachina M et al (2007) Candidate gene polymorphisms in the serotonergic pathway: influence on depression symptomatology in an elderly population. Biol Psychiatry 61:223–230
3. Cordes FS, Bright JN, Sansom MSP (2002) Proline-induced distortions of transmembrane helices. J Mol Biol 323:951–960
4. Eiden LE, Weihe E (2011) VMAT2: a dynamic regulator of brain monoaminergic neuronal function interacting with drugs of abuse. Ann N Y Acad Sci 1216:86–98
5. Exome Aggregation Consortium (ExAC) (2014) Cambridge MA (URL: http://exac.broadinstitute.org). December 2014
6. Frank S (2010) Tetrabenazine: the first approved drug for the treatment of chorea in US patients with Huntington disease. Neuropsychiatr Dis Treat 6:657–665
7. Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT (2011) The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 10:721–733
8. Marecos C, Ng J, Kurian MA (2014) What is new for monoamine neurotransmitter disorders? J Inherit Metab Dis 37:619–626
9. Ng J, Heales SJR, Kurian MA (2014) Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders. Pediatr Drugs 16:275–291
10. Partridge AW, Therien AG, Deber CM (2004) Missense mutations in transmembrane domains of proteins: phenotypic propensity of polar residues for human disease. Proteins 54:648–656
11. Rilstone JJ, Alkhater RA, Minassian BA (2013) Brain dopamine–serotonin vesicular transport disease and its treatment. N Engl J Med 368:543–550
12. Rodan LH, Gibson KM, Pearl PL (2015) Clinical use of CSF neurotransmitters. Pediatr Neurol 53:277–286
13. Simons CJ, van Winkel R (2013) Intermediate phenotype analysis of patients, unaffected siblings, and healthy controls identifies VMAT2 as a candidate gene for psychotic disorder and neurocognition. Schizophr Bull 39:848–856
14. Solovieff N, Roberts AL, Ratanatharathorn A et al (2014) Genetic association analysis of 300 genes identifies a risk haplotype in SLC18A2 for post-traumatic stress disorder in two independent samples. Neuropsychopharmacol 39:1872–1879
15. Takahashi N, Miner LL, Sora I et al (1997) VMAT2 knockout mice: heterozygotes display reduced amphetamine-conditioned reward, enhanced amphetamine locomotion, and enhanced MPTP toxicity. Proc Natl Acad Sci 94:9938–9943
16. Walker M (1977) Makaton system of communication. Spec Educ Forw Trends 4:11